A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15990049



Internal ID19715303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:152388528..152395528hg38UCSC Ensembl
chrX:151557000..151564000hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg387001
hg197001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4033735
Supporting Variants
Samples
Known GenesGABRA3, MIR105-1, MIR105-2, MIR767
MethodSequencing
AnalysisSV calls were generated using multi-algorithm consensus pipeline involving raw evidence assessment, filtering, clustering, genotyping, alternative allele structure resolution, and gene annotation. These methods are described in detail in the gnomAD-SV preprint [Collins*, Brand*, et al., bioRxiv (2019)|https://www.biorxiv.org/content/10.1101/578674v1], and are largely based on methods developed in [Werling et al., Nat. Genet. (2018)|https://www.ncbi.nlm.nih.gov/pubmed/29700473].
Platform
Comments
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nssv15990049
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000047


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